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SOD1 Mutations

The SOD1 enzyme, encoded by the SOD1 gene helps to reduce damage from highly reactive and toxic chemicals called free radicals. Scientists assumed that losing this ability via a mutation caused ALS in these patients, but Packard Center scientists and others have shown that mutant SOD1 brings about motor neuron death by other means.

Patients and ALS model animals can have good SOD1 enzyme function and still suffer progressive motor neuron loss. Packard scientists are actively exploring how mutant SOD1 damages cells, trying to show the important missing links between the damaged gene and all of the other pathological processes linked to ALS.

Because we know for certain that mutations in the SOD1 gene are toxic to motor neurons and are responsible for a subset of ALS cases, there’s likely great value in understanding how mutated SOD1 causes motor neuron death. Investigators refer to the resulting lines of research as work on SOD1-mediated neural toxicity. 

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Johns Hopkins University
Motor neurons can only work properly if the cell’s proteins can get to the right place at the right time. Thomas Lloyd uses the fruit fly Drosophila melanogaster to study how proteins are shuttled between the cell body and the synapse, as interruptions in this process have been linked to ALS. 
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University of Michigan
Sami Barmada wants to answer a very basic question about ALS: why motor neurons? Of all the different types of neurons in the body (and scientists estimate there are probably several hundred), it’s only motor neurons that are affected in ALS. Knowing why this is, Barmada believes, could be the key to developing new potential treatments that could prevent the deterioration and death of motor neurons. 
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